Use of Tandem Mass Spectrometry for Multianalyte Screening of Dried Blood Specimens from Newborns
Chace, Donald H, Kalas, Theodore A, Naylor, Edwin W
Published in Clinical chemistry (Baltimore, Md.) (01.11.2003)
Published in Clinical chemistry (Baltimore, Md.) (01.11.2003)
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Journal Article
Development of DNA Confirmatory and High-Risk Diagnostic Testing for Newborns Using Targeted Next-Generation DNA Sequencing
Bhattacharjee, Arindam, Sokolsky, Tanya, Wyman, Stacia K., Reese, Martin G., Puffenberger, Erik, Strauss, Kevin, Morton, Holmes, Parad, Richard B., Naylor, Edwin W.
Published in Genetics in medicine (01.05.2015)
Published in Genetics in medicine (01.05.2015)
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Molecular analysis using targeted next generation DNA sequencing and clinical spectrum of Mexican patients with isovaleric acidemia
Ibarra-González, Isabel, Fernández-Lainez, Cynthia, Guillén-López, Sara, López-Mejía, Lizbeth, Belmont-Matínez, Leticia, Sokolsky, Tanya D., Amin, Viren R., Kitchener, Rebecca L., Vela-Amieva, Marcela, Naylor, Edwin W., Bhattacharjee, Arindam
Published in Clinica chimica acta (01.02.2020)
Published in Clinica chimica acta (01.02.2020)
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Journal Article
Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy
Wood, Molly F., Hughes, Sarah C., Hache, Lauren P., Naylor, Edwin W., Abdel-Hamid, Hoda Z., Barmada, M. Michael, Dobrowolski, Steven F., Stickler, David E., Clemens, Paula R.
Published in Muscle & nerve (01.06.2014)
Published in Muscle & nerve (01.06.2014)
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Journal Article
Effect of Expanded Newborn Screening for Biochemical Genetic Disorders on Child Outcomes and Parental Stress
Waisbren, Susan E, Albers, Simone, Amato, Steve, Ampola, Mary, Brewster, Thomas G, Demmer, Laurie, Eaton, Roger B, Greenstein, Robert, Korson, Mark, Larson, Cecilia, Marsden, Deborah, Msall, Michael, Naylor, Edwin W, Pueschel, Siegfried, Seashore, Margretta, Shih, Vivian E, Levy, Harvey L
Published in JAMA : the journal of the American Medical Association (19.11.2003)
Published in JAMA : the journal of the American Medical Association (19.11.2003)
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Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles
Dobrowolski, Steven F., Ellingson, Clinton, Coyne, Thomas, Grey, Jesse, Martin, Ranae, Naylor, Edwin W., Koch, Richard, Levy, Harvey L.
Published in Molecular genetics and metabolism (01.07.2007)
Published in Molecular genetics and metabolism (01.07.2007)
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Journal Article
Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Mutations Identified by MS/MS-Based Prospective Screening of Newborns Differ from Those Observed in Patients with Clinical Symptoms: Identification and Characterization of a New, Prevalent Mutation That Results in Mild MCAD Deficiency
Andresen, Brage Storstein, Dobrowolski, Steve F., O'Reilly, Linda, Muenzer, Joseph, McCandless, Shawn E., Frazier, Dianne M., Udvari, Szabolcs, Bross, Peter, Knudsen, Inga, Banas, Rick, Chace, Donald H., Engel, Paul, Naylor, Edwin W., Gregersen, Niels
Published in American journal of human genetics (01.06.2001)
Published in American journal of human genetics (01.06.2001)
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Journal Article
Conference Proceeding
Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry
Chace, Donald H, Hillman, Steven L, Van Hove, Johan L. K, Naylor, Edwin W
Published in Clinical chemistry (Baltimore, Md.) (01.11.1997)
Published in Clinical chemistry (Baltimore, Md.) (01.11.1997)
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Journal Article
Conference Proceeding
Alternative DNA-based newborn screening for glucose-6-phosphate dehydrogenase deficiency
Lin, Zhili, Fontaine, Jamie M., Freer, Dennis E., Naylor, Edwin W.
Published in Molecular genetics and metabolism (01.09.2005)
Published in Molecular genetics and metabolism (01.09.2005)
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Journal Article
Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency
Dobrowolski, Steven F, Angeletti, Janine, Banas, Richard A, Naylor, Edwin W
Published in Molecular genetics and metabolism (01.02.2003)
Published in Molecular genetics and metabolism (01.02.2003)
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Journal Article
Analysis of Common Mutations in the Galactose-1-Phosphate Uridyl Transferase Gene: New Assays to Increase the Sensitivity and Specificity of Newborn Screening for Galactosemia
Dobrowolski, Steven F, Banas, Richard A, Suzow, Joseph G, Berkley, Michelle, Naylor, Edwin W
Published in The Journal of molecular diagnostics : JMD (01.02.2003)
Published in The Journal of molecular diagnostics : JMD (01.02.2003)
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Journal Article
A high throughput β-globin genotyping method by multiplexed melting temperature analysis
Lin, Zhili, Suzow, Joseph G, Fontaine, Jamie M, Naylor, Edwin W
Published in Molecular genetics and metabolism (01.03.2004)
Published in Molecular genetics and metabolism (01.03.2004)
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Journal Article
Optimization of an automated DNA purification protocol for neonatal screening
Heath, E M, O'Brien, D P, Banas, R, Naylor, E W, Dobrowolski, S
Published in Archives of pathology & laboratory medicine (1976) (01.12.1999)
Published in Archives of pathology & laboratory medicine (1976) (01.12.1999)
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